Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?
- PMID: 9295086
- PMCID: PMC6025896
Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?
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References
-
- Bray GA, Dahms WT, Swerdloff RS, Fiser RH, Atkinson RL, Carrel RE. The Prader-Willi syndrome. Medicine. 1983;62:59–80. - PubMed
-
- de la Chapelle A. Sex chromosome abnormalities. In: Emery AEH, Rimoin DL, editors. Principles and Practice of Medical Genetics. Churchill Livingston; Edinburgh: 1983. pp. 193–215.
-
- Dunn HG. The Prader Willi syndrome: review of the literature and the report of nine cases. Acta Pediatr Scand. 1968;186:1–38. - PubMed
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